19-50849771-A-T

Variant names:

• chr19-50849771-A-T
• rs266867
• ENST00000598079.1:n.214-1140A>T

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The ENST00000598079.1(ENSG00000267968):​n.214-1140A>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.894 in 151,164 control chromosomes in the GnomAD database, including 60,594 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.89 (60594 hom., cov: 25)
• Consequence: ENSG00000267968 ENST00000598079.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.804
• Publications: 3 publications found

Genes affected

ENSG00000267968 (HGNC:):

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.05).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.916 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
LOC105372441	NR_131203.1	n.214-1140A>T		intron_variant	Intron 2 of 2
LOC105372441	NR_131205.1	n.231-1140A>T		intron_variant	Intron 2 of 2

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
ENSG00000267968	ENST00000598079.1	n.214-1140A>T		intron_variant	Intron 2 of 2	3

Frequencies

GnomAD3 genomes AF: 0.894 AC: 135058 AN: 151048 Hom.: 60559 Cov.: 25

Gnomad AFR AF: 0.863

Gnomad AMI AF: 0.915

Gnomad AMR AF: 0.823

Gnomad ASJ AF: 0.923

Gnomad EAS AF: 0.842

Gnomad SAS AF: 0.863

Gnomad FIN AF: 0.962

Gnomad MID AF: 0.899

Gnomad NFE AF: 0.923

Gnomad OTH AF: 0.896

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.894 AC: 135146 AN: 151164 Hom.: 60594 Cov.: 25 AF XY: 0.891 AC XY: 65840 AN XY: 73866

African (AFR) AF: 0.863 AC: 35343 AN: 40966

American (AMR) AF: 0.823 AC: 12476 AN: 15166

Ashkenazi Jewish (ASJ) AF: 0.923 AC: 3203 AN: 3472

East Asian (EAS) AF: 0.842 AC: 4308 AN: 5116

South Asian (SAS) AF: 0.863 AC: 4117 AN: 4770

European-Finnish (FIN) AF: 0.962 AC: 10097 AN: 10492

Middle Eastern (MID) AF: 0.891 AC: 262 AN: 294

European-Non Finnish (NFE) AF: 0.923 AC: 62637 AN: 67896

Other (OTH) AF: 0.898 AC: 1872 AN: 2084

Alfa AF: 0.911 Hom.: 7942

Bravo AF: 0.880

Asia WGS AF: 0.866 AC: 3011 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.1
CADD	Benign	0.40
DANN	Benign	0.39
PhyloP100		-0.80

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Other links and lift over

dbSNP: rs266867; hg19: chr19-51353027;